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HPRT mutations in vivo in human CD 34+ hematopoietic stem cells.
Grant BW, Trombley LM, Hunter TC, Nicklas JA, O'Neill JP, Albertini RJ. Grant BW, et al. Among authors: trombley lm. Mutat Res. 1999 Dec 17;431(2):183-98. doi: 10.1016/s0027-5107(99)00161-x. Mutat Res. 1999. PMID: 10635986
Lesch-Nyhan disease in a female with a clinically normal monozygotic twin.
De Gregorio L, Jinnah HA, Harris JC, Nyhan WL, Schretlen DJ, Trombley LM, O'Neill JP. De Gregorio L, et al. Among authors: trombley lm. Mol Genet Metab. 2005 May;85(1):70-7. doi: 10.1016/j.ymgme.2004.11.009. Epub 2005 Feb 17. Mol Genet Metab. 2005. PMID: 15862283
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